Cystic fibrosis (CF) causes chronic infections in the respiratory tract and alters the digestive tract. This paper reviews the most important aspects of drug treatment and changes in the digestive tract of patients with CF. This is a review of the literature, emphasizing the discoveries made within the last 15 years by analyzing scientific papers published in journals indexed in the Scientific Electronic Library Online, Sciences Information, United States National Library of Medicine and Medical Literature Analysis and Retrieval System Online databases, both in English and Portuguese, using the key words: cystic fibrosis, medication, therapeutic, absorption, digestion. Randomized, observational, experimental, and epidemiological clinical studies were selected, among others, with statistical significance of 5%. This review evaluates the changes found in the digestive tract of CF patients including pancreatic insufficiency, constipation and liver diseases. Changes in nutritional status are also described. Clinical treatment, nutritional supplementation and drug management were classified in this review as essential to the quality of life of CF patients, and became available through public policies for monitoring and treating CF. The information gathered on CF and a multi professional approach to the disease is essential in the treatment of these patients.

At the request of the Medicines and Healthcare Regulatory Agency and in agreement with the appropriate authorities, an observational, multi-center, non-interventional, post-authorization safety study of high-strength pancreatic enzymes was conducted.

Patients with exocrine pancreatic insufficiency due to cystic fibrosis (CF) who had previously taken high doses of pancreatic enzymes received pancreatin 40,000 capsules (Creon 40,000 Minimicrospheres, Abbott GmbH, Hanover, Germany) as part of their normal treatment for up to 2 years. Initial doses were calculated to match previous established doses in lipase units, with adjustment if required.

Safety focused on serious suspected adverse drug reactions. Maldigestion symptoms and body weight were also monitored. Patients were managed according to general guidelines common to all major CF units in the UK, although minor variations were expected. The coefficient of fat absorption was not assessed as this was a safety rather than an efficacy study.

Sixty-four patients were enrolled at nine UK centers. Two deaths occurred during the study, which were considered unrelated to therapy by investigators. There were no further serious suspected adverse drug reactions related to pancreatin 40,000 and no cases of fibrosing colonopathy. Daily lipase doses were reduced by 11% after switching to pancreatin 40,000. Maldigestion symptoms improved and mean body weight increased from baseline to last observation (mean + 6.1 kg in patients < 18 years old).

No safety concerns were identified with pancreatin 40,000 therapy for up to 2 years. Daily lipase doses were not increased when switching to pancreatin 40,000.

This is the third article related to a review of the literature based on data from national cystic fibrosis (CF) patient registries up to June 2008 and covering a total of 115 published studies. It focuses on several topics: CF incidence, genotype/phenotype correlation, microbiology, pregnancy/paternity, clinical complications, lung transplantation, and others. Seventy seven papers meeting the inclusion criteria were found to be related to the topics listed above. Another seven studies, already evaluated in previous papers of this series, were recalled for specific topics. Incidence is described by several studies, results being quite different from one country to another and quite inhomogeneous among regions within the same country. Studies on genetics address the genotype/phenotype correlation and look for a predictive value of CFTR mutations in terms of clinical outcome, with controversial results. Papers on microbiology describe the clinical relevance of different pathogens and their role in the progress of CF lung disease. A few articles give information on the features of CF women undergoing a pregnancy and try to identify the ones associated with a better outcome. Studies on clinical complications discuss prevalence and the role of haemoptysis, pneumothorax, CF related diabetes, ABPA and cancer. Papers on lung transplantation focus on models able to improve the selection criteria for transplantation candidates and the factors linked to post transplantation survival. Finally, several studies deal with a number of interesting topics related to CF epidemiology: clinical trial methodology, quality of care comparison among countries and centers, relationship between diagnosis and age/gender, and evaluation of pharmacological therapy. On the whole, CF Registries have already contributed to important advances in the knowledge of the natural history of CF, establishing the foundations for future improvement in CF research and care.

Newborn screening for cystic fibrosis might not be introduced if implementation and running costs are perceived as prohibitive. Compared with clinical diagnosis, newborn screening is associated with clinical benefit and reduced treatment needs. We estimate the potential savings in treatment costs attributable to newborn screening.

Using the UK Cystic Fibrosis Database, we used a prevalence strategy to undertake a cost of illness retrospective snapshot cohort study. We estimated yearly costs of long-term therapies and intravenous antibiotics for 184 patients who were diagnosed as a result of screening as newborn babies, and 950 patients who were clinically diagnosed aged 1-9 years in 2002. Costs of adding cystic fibrosis screening to an established newborn screening service in Scotland were adjusted to 2002 prices and applied to the UK as a whole. Costs were recalculated in US$.

Cost of therapy for patients diagnosed by newborn screening was significantly lower than equivalent therapies for clinically diagnosed patients: mean ($7228 vs $12 008, 95% CI of difference -6736 to -2028, p<0.0001) and median ($352 vs $2442, -1916 to -180, p<0.0001). When we limited the clinically diagnosed group to only those diagnosable with a 31 cystic fibrosis transmembrane regulator mutation assay and assumed similar disease progression in the clinically diagnosed group as in the newborn screening group, we showed that mean ($3,397,344) or median ($947,032) drug cost savings could have offset the estimated cost of adding cystic fibrosis to a UK national newborn screening service ($2,971,551).

Including indirect costs savings, newborn screening for cystic fibrosis might have even greater financial benefits to society than our estimate shows. Clinical, social, and now economic evidence suggests that universal newborn screening programmes for cystic fibrosis should be adopted internationally.

We tested the hypothesis that the Asian cystic fibrosis (CF) phenotype is comparable to the commonest genetic form of CF found in 50% of the white UK CF population using the UK CF Database, a national disease-specific patient registry.

50 Asian CF patients were matched by Centre with 143 white homozygous delta F508 patients for gender, age and chronic Pseudomonas aeruginosa status (a marker of morbidity). The authors compared FEV1 and FVC% predicted, mean height, weight and BMI Z scores.

FVC% predicted, weight and BMI Z scores were significantly worse in the Asians. Asian male/female FVC% predicted (p-value, 95% CI) -15.1 (p=0.001, -24.0, -8.8)/-15.2 (p=0.014, -27.1, -3.3) compared with white controls. Asian females also had significantly worse FEV1% predicted compared with controls (-14.9, p=0.025, 95% CI: -27.8, -2.0). Asians had significantly lower raw Z scores for weight (males p=0.002, females p=0.013) and BMI (males p=0.002, females p=0.008).

These data suggest that the Asian CF phenotype is as severe as the white controls with the homozygous delta F508 phenotype but is worse in some outcomes, especially in Asian females. Socio-cultural factors and rare CF genotypes may contribute to the severity of CF in this vulnerable group.